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Article

Population-based variation in cardiomyopathy genes.

Circulation. Cardiovascular genetics - 1 Aug 2012

Golbus Jessica R, Puckelwartz Megan J, Fahrenbach John P, Dellefave-Castillo Lisa M, Wolfgeher Don, McNally Elizabeth M

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy and dilated cardiomyopathy arise from mutations in genes encoding sarcomere proteins including MYH7, MYBPC3, and TTN. Genetic diagnosis of cardiomyopathy relies on complete sequencing of the gene coding regions, and most pathogenic variation is rare. The 1000 Genomes Project is an ongoing consortium designed to deliver whole genome sequence information from an ethnically...

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Identifiers

PMID: 22763267
DOI: 10.1161/CIRCGENETICS.112.962928
PMCID: PMC3495587

Genes

TTN
MYBPC3
MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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